Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
BOC_chr3_113206557_113292459	113260708	A A	AGAACAGA others(12): Show AGAACAGAAAGAACAGAACG	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0034 a0001c0002t0034	a0001c0002t0034g0171 a0001c0002t0034g0171	1	386	0.0026	19	c.377 others(36): Show c.377-7583_377-7582insAGAACAGAACGGAACAGAA	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
BOLA2_chr16_29448593_29459351	29450761	A A	ATATATAT others(12): Show ATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	174	0.0058	19	c.28 others(30): Show c.2871_*2872insATATATATATATATATATA	BOLA2	ENSG00000183336.9	transcript	ENST00000330978.4	protein_coding		2831		chr16	TogoVar
BORCS8_chr19_19171906_19197152	19174385	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0169 a0002c0002t0001g0169	1	428	0.0023	19	c.30 others(30): Show c.3099_*3117dupAAAAAAAAAAAAAAAAAAA	BORCS8	ENSG00000254901.8	transcript	ENST00000462790.8	protein_coding		2520		chr19	TogoVar
BORCS8_chr19_19171906_19197152	19177696	G G	GGAAGAGA others(12): Show GGAAGAGAAAAGAAAAGAAA	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0112 a0001c0001t0005g0112	1	428	0.0023	19	c.43 others(34): Show c.43-237_*43-236insTTTCTTTTCTTTTCTCTTC	BORCS8	ENSG00000254901.8	transcript	ENST00000462790.8	protein_coding	5/5			chr19	TogoVar
BORCS8_chr19_19171906_19197152	19177696	G G	GGAAGGGA others(12): Show GGAAGGGAAAAGAAAAGAAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0152 a0001c0001t0005g0152	1	428	0.0023	19	c.43 others(34): Show c.43-237_*43-236insTTTCTTTTCTTTTCCCTTC	BORCS8	ENSG00000254901.8	transcript	ENST00000462790.8	protein_coding	5/5			chr19	TogoVar
BPGM_chr7_134641853_134684816	134658892	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02630.hp1 HG01255.hp2 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0186 a0001c0001t0001g0187	2	362	0.0055	19	c.-61 others(36): Show c.-61-2545_-61-2544insTTTTTTTTTTTTTTTTTTT	BPGM	ENSG00000172331.12	transcript	ENST00000344924.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
BPIFB4_chr20_33074643_33116751	33087753	C C	CACACACA others(12): Show CACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01934.hp1 HG02083.hp2 HG01255.hp1 HG01934.hp1 HG02083.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0252 a0002c0002t0001g0118 a0002c0002t0001g0119 a0001c0001t0001g0252 a0002c0002t0001g0118 a0002c0002t0001g0119	3	344	0.0087	19	c.927 others(36): Show c.927-1212_927-1211insCACACACACACACACACAA	BPIFB4	ENSG00000186191.9	transcript	ENST00000375483.4	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
BPI_chr20_38299156_38342505	38339638	G G	GAAAAAAA others(12): Show GAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02602.hp2 HG02896.hp2 others(4): Show HG02559.hp2 HG02602.hp2 HG02896.hp2 HG02897.hp1 HG03491.hp1 HG03492.hp2 NA20905.hp1	a0002 a0005 a0010 others(1): Show a0002 a0005 a0010 a0024	a0002c0002 a0005c0006 a0010c0010 others(1): Show a0002c0002 a0005c0006 a0010c0010 a0024c0026	a0002c0002t0001 a0005c0006t0003 a0010c0010t0003 others(1): Show a0002c0002t0001 a0005c0006t0003 a0010c0010t0003 a0024c0026t0001	a0002c0002t0001g0004 a0002c0002t0001g0092 a0005c0006t0003g0095 others(2): Show a0002c0002t0001g0004 a0002c0002t0001g0092 a0005c0006t0003g0095 a0010c0010t0003g0284 a0024c0026t0001g0024	7	426	0.0164	19	c.24 others(30): Show c.2454_*2455insAAAAAAAAAAAAAAAAAAA	BPI	ENSG00000101425.14	transcript	ENST00000642449.2	protein_coding		2134		chr20	TogoVar
BPTF_chr17_67820503_67989378	67917131	C C	CTTTTTTT others(12): Show CTTTTTTTTTGTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0231 a0002c0002t0002g0231	1	274	0.0037	19	c.530 others(38): Show c.5304-1574_5304-1573insGTTTTTTTTTTTTTTTTTT	BPTF	ENSG00000171634.19	transcript	ENST00000306378.11	protein_coding	11/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BPTF_chr17_67820503_67989378	67917131	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02965.hp2 NA19030.hp1 HG01361.hp2 HG02965.hp2 NA19030.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0002 a0005c0008t0002	a0005c0008t0002g0101 a0005c0008t0002g0102 a0005c0008t0002g0103 a0005c0008t0002g0101 a0005c0008t0002g0102 a0005c0008t0002g0103	3	274	0.0110	19	c.530 others(38): Show c.5304-1582_5304-1564dupTTTTTTTTTTTTTTTTTTT	BPTF	ENSG00000171634.19	transcript	ENST00000306378.11	protein_coding	11/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BPTF_chr17_67820503_67989378	67979169	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02818.hp1 HG02896.hp2 others(2): Show HG02717.hp1 HG02818.hp1 HG02896.hp2 HG06807.hp2 NA18522.hp1	a0001 a0008 a0013 a0001 a0008 a0013	a0001c0005 a0008c0023 a0013c0025 a0001c0005 a0008c0023 a0013c0025	a0001c0005t0005 a0008c0023t0005 a0013c0025t0005 a0001c0005t0005 a0008c0023t0005 a0013c0025t0005	a0001c0005t0005g0100 a0001c0005t0005g0266 a0001c0005t0005g0268 others(2): Show a0001c0005t0005g0100 a0001c0005t0005g0266 a0001c0005t0005g0268 a0008c0023t0005g0264 a0013c0025t0005g0038	5	274	0.0183	19	c.872 others(38): Show c.8727-3080_8727-3062dupAAAAAAAAAAAAAAAAAAA	BPTF	ENSG00000171634.19	transcript	ENST00000306378.11	protein_coding	27/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BPTF_chr17_67820503_67989378	67984630	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG00741.hp1 HG01175.hp1 others(7): Show HG00597.hp2 HG00741.hp1 HG01175.hp1 HG02572.hp1 HG03098.hp2 HG04184.hp1 NA18522.hp1 NA18965.hp1 NA18993.hp2 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0005 a0001c0001t0001 a0001c0005t0005	a0001c0001t0001g0017 a0001c0001t0001g0023 a0001c0001t0001g0028 others(7): Show a0001c0001t0001g0017 a0001c0001t0001g0023 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0042 a0001c0001t0001g0062 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0178 a0001c0005t0005g0100	10	274	0.0365	19	c.23 others(30): Show c.2342_*2343insTTTTTTTTTTTTTTTTTTT	BPTF	ENSG00000171634.19	transcript	ENST00000306378.11	protein_coding		253		chr17	TogoVar
BRAP_chr12_111637146_111690956	111667698	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00597.hp2 HG01081.hp2 others(32): Show HG00099.hp1 HG00597.hp2 HG01081.hp2 HG01123.hp2 HG01975.hp2 HG02027.hp2 HG02040.hp1 HG02056.hp1 HG02559.hp2 HG02818.hp1 HG03130.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp2 NA18947.hp2 NA18950.hp2 NA18964.hp1 NA18967.hp1 NA18971.hp2 NA18979.hp2 NA18985.hp1 NA19000.hp2 NA19009.hp2 NA19065.hp1 NA19068.hp1 NA19074.hp2 NA19076.hp2 NA19084.hp2 NA20129.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0001t0008 a0001c0001t0011 others(1): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0011 a0001c0008t0001	a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0016 others(28): Show a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0016 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0038 a0001c0001t0001g0058 a0001c0001t0001g0070 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0239 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0008g0248 a0001c0001t0011g0068 a0001c0008t0001g0205	35	364	0.0962	19	c.748 others(36): Show c.748-1930_748-1912dupTTTTTTTTTTTTTTTTTTT	BRAP	ENSG00000089234.16	transcript	ENST00000419234.9	protein_coding	5/11			chr12	TogoVar
BRAT1_chr7_2532810_2560524	2552081	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02027.hp1 NA20905.hp2 HG00408.hp1 HG02027.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0233 a0001c0001t0001g0273 a0001c0003t0001g0274 a0001c0001t0001g0233 a0001c0001t0001g0273 a0001c0003t0001g0274	3	424	0.0071	19	c.127 others(36): Show c.127+2223_127+2224insATATATATATATATATATA	BRAT1	ENSG00000106009.16	transcript	ENST00000340611.9	protein_coding	2/13			chr7	TogoVar
BRAT1_chr7_2532810_2560524	2552106	A A	ATATATAT others(12): Show ATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0008 a0008	a0008c0033 a0008c0033	a0008c0033t0001 a0008c0033t0001	a0008c0033t0001g0379 a0008c0033t0001g0379	1	424	0.0024	19	c.127 others(36): Show c.127+2198_127+2199insAAATATATATATATATATA	BRAT1	ENSG00000106009.16	transcript	ENST00000340611.9	protein_coding	2/13			chr7	TogoVar
BRAT1_chr7_2532810_2560524	2552106	A A	ATATATAT others(12): Show ATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	424	0.0024	19	c.127 others(36): Show c.127+2198_127+2199insAAAAATATATATATATATA	BRAT1	ENSG00000106009.16	transcript	ENST00000340611.9	protein_coding	2/13			chr7	TogoVar
BRAT1_chr7_2532810_2560524	2552107	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01358.hp1 HG03540.hp2 others(4): Show HG00597.hp1 HG01358.hp1 HG03540.hp2 NA18946.hp2 NA19063.hp1 NA19063.hp2 NA19077.hp2	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0001c0003 a0004c0007 others(1): Show a0001c0001 a0001c0003 a0004c0007 a0005c0008	a0001c0001t0001 a0001c0003t0001 a0004c0007t0001 others(1): Show a0001c0001t0001 a0001c0003t0001 a0004c0007t0001 a0005c0008t0001	a0001c0001t0001g0236 a0001c0003t0001g0018 a0001c0003t0001g0276 others(3): Show a0001c0001t0001g0236 a0001c0003t0001g0018 a0001c0003t0001g0276 a0004c0007t0001g0317 a0005c0008t0001g0237 a0005c0008t0001g0260	7	424	0.0165	19	c.127 others(36): Show c.127+2197_127+2198insTATATATATATATATATAT	BRAT1	ENSG00000106009.16	transcript	ENST00000340611.9	protein_coding	2/13			chr7	TogoVar
BRD8_chr5_138134770_138183630	138167091	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0354 a0001c0001t0001g0354	1	378	0.0027	19	c.788 others(34): Show c.788-383_788-365dupTTTTTTTTTTTTTTTTTTT	BRD8	ENSG00000112983.18	transcript	ENST00000254900.10	protein_coding	9/26			chr5	TogoVar
BRI3BP_chr12_124988645_125036231	124997214	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03041.hp2 HG03225.hp1 others(1): Show HG01109.hp2 HG03041.hp2 HG03225.hp1 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0014 a0001c0001t0031 a0001c0001t0032 others(1): Show a0001c0001t0014 a0001c0001t0031 a0001c0001t0032 a0002c0002t0054	a0001c0001t0014g0066 a0001c0001t0031g0034 a0001c0001t0032g0067 others(1): Show a0001c0001t0014g0066 a0001c0001t0031g0034 a0001c0001t0032g0067 a0002c0002t0054g0149	4	410	0.0098	19	c.213 others(36): Show c.213+3212_213+3230dupTTTTTTTTTTTTTTTTTTT	BRI3BP	ENSG00000184992.13	transcript	ENST00000341446.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
BRI3BP_chr12_124988645_125036231	125016825	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0206 a0002c0002t0003g0206	1	410	0.0024	19	c.316 others(36): Show c.316+4198_316+4216dupTTTTTTTTTTTTTTTTTTT	BRI3BP	ENSG00000184992.13	transcript	ENST00000341446.9	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
BRI3BP_chr12_124988645_125036231	125019634	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG03490.hp2 NA18984.hp2 others(2): Show HG00642.hp1 HG03490.hp2 NA18984.hp2 NA19062.hp2 NA19068.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0004 a0002c0002t0029 a0002c0002t0003 a0002c0002t0004 a0002c0002t0029	a0002c0002t0003g0167 a0002c0002t0003g0169 a0002c0002t0003g0226 others(2): Show a0002c0002t0003g0167 a0002c0002t0003g0169 a0002c0002t0003g0226 a0002c0002t0004g0140 a0002c0002t0029g0257	5	410	0.0122	19	c.317 others(36): Show c.317-5357_317-5356insTTTTTTTTTTTTTTTTTTT	BRI3BP	ENSG00000184992.13	transcript	ENST00000341446.9	protein_coding	2/2			chr12	TogoVar
BRI3BP_chr12_124988645_125036231	125022537	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0218 a0002c0002t0004g0218	1	410	0.0024	19	c.317 others(36): Show c.317-2451_317-2450insTTTTTTTTTTTTTTTTTTT	BRI3BP	ENSG00000184992.13	transcript	ENST00000341446.9	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
BRI3BP_chr12_124988645_125036231	125022541	A A	ATTTATTT others(12): Show ATTTATTTATTTATTTATTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02074.hp1 HG02486.hp2 others(1): Show HG01243.hp1 HG02074.hp1 HG02486.hp2 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0014 a0001c0001t0068 a0002c0002t0002 a0001c0001t0014 a0001c0001t0068 a0002c0002t0002	a0001c0001t0014g0309 a0001c0001t0068g0397 a0002c0002t0002g0246 others(1): Show a0001c0001t0014g0309 a0001c0001t0068g0397 a0002c0002t0002g0246 a0002c0002t0002g0375	4	410	0.0098	19	c.317 others(36): Show c.317-2447_317-2446insATTTATTTATTTATTTTTT	BRI3BP	ENSG00000184992.13	transcript	ENST00000341446.9	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
BRI3BP_chr12_124988645_125036231	125022541	A A	ATTTATTT others(12): Show ATTTATTTATTTATTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00558.hp2 HG00733.hp1 others(35): Show HG00423.hp2 HG00558.hp2 HG00733.hp1 HG01081.hp2 HG01257.hp2 HG01261.hp2 HG02015.hp2 HG02647.hp1 HG02895.hp1 HG03041.hp2 HG03139.hp2 HG03239.hp1 HG03490.hp1 HG03492.hp1 HG03688.hp2 HG03834.hp1 NA18942.hp1 NA18945.hp1 NA18954.hp1 NA18966.hp2 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18981.hp1 NA18982.hp2 NA18990.hp2 NA19000.hp2 NA19003.hp1 NA19004.hp1 NA19009.hp2 NA19010.hp2 NA19012.hp1 NA19075.hp1 NA19080.hp1 NA19088.hp2 NA20300.hp1 NA20752.hp2 NA20905.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0002 a0001c0001t0004 a0001c0001t0012 others(13): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0012 a0001c0001t0014 a0001c0001t0019 a0001c0001t0022 a0001c0001t0053 a0001c0001t0065 a0002c0002t0002 a0002c0002t0005 a0002c0002t0012 a0002c0002t0014 a0002c0002t0018 a0002c0002t0069 a0002c0002t0095 a0003c0003t0011	a0001c0001t0002g0003 a0001c0001t0002g0009 a0001c0001t0002g0014 others(34): Show a0001c0001t0002g0003 a0001c0001t0002g0009 a0001c0001t0002g0014 a0001c0001t0002g0060 a0001c0001t0002g0089 a0001c0001t0002g0114 a0001c0001t0002g0123 a0001c0001t0002g0131 a0001c0001t0002g0154 a0001c0001t0002g0308 a0001c0001t0004g0063 a0001c0001t0004g0065 a0001c0001t0004g0281 a0001c0001t0012g0128 a0001c0001t0014g0066 a0001c0001t0019g0287 a0001c0001t0022g0280 a0001c0001t0053g0310 a0001c0001t0065g0400 a0002c0002t0002g0032 a0002c0002t0002g0033 a0002c0002t0002g0168 a0002c0002t0002g0210 a0002c0002t0002g0292 a0002c0002t0002g0298 a0002c0002t0005g0207 a0002c0002t0005g0215 a0002c0002t0005g0300 a0002c0002t0012g0238 a0002c0002t0014g0372 a0002c0002t0014g0373 a0002c0002t0018g0261 a0002c0002t0069g0223 a0002c0002t0095g0302 a0003c0003t0011g0052 a0003c0003t0011g0053 a0003c0003t0011g0146	38	410	0.0927	19	c.317 others(36): Show c.317-2447_317-2446insATTTATTTATTTTTTTTTT	BRI3BP	ENSG00000184992.13	transcript	ENST00000341446.9	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
BRI3BP_chr12_124988645_125036231	125022541	A A	ATTTATTT others(12): Show ATTTATTTATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00741.hp2 HG01106.hp2 others(26): Show HG00609.hp1 HG00741.hp2 HG01106.hp2 HG01123.hp2 HG01167.hp2 HG01169.hp2 HG01255.hp2 HG01358.hp1 HG02056.hp1 HG02056.hp2 HG02083.hp2 HG02129.hp2 HG02132.hp2 HG02145.hp2 HG02155.hp1 HG02165.hp2 HG02572.hp2 HG03209.hp2 HG03471.hp1 HG06807.hp2 NA18612.hp1 NA18941.hp1 NA18961.hp2 NA18975.hp2 NA18995.hp1 NA19011.hp1 NA19063.hp2 NA19067.hp2 NA19084.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0010 a0002c0002 others(1): Show a0001c0001 a0001c0010 a0002c0002 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0013 a0001c0001t0019 a0001c0001t0043 a0001c0001t0059 a0001c0010t0055 a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0002c0002t0018 a0002c0002t0061 a0002c0002t0062 a0004c0004t0002 a0004c0004t0012	a0001c0001t0001g0096 a0001c0001t0002g0011 a0001c0001t0002g0012 others(26): Show a0001c0001t0001g0096 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0004g0042 a0001c0001t0004g0271 a0001c0001t0004g0323 a0001c0001t0004g0331 a0001c0001t0013g0068 a0001c0001t0019g0110 a0001c0001t0019g0111 a0001c0001t0043g0036 a0001c0001t0059g0083 a0001c0010t0055g0151 a0002c0002t0002g0165 a0002c0002t0002g0166 a0002c0002t0002g0171 a0002c0002t0002g0244 a0002c0002t0002g0258 a0002c0002t0004g0162 a0002c0002t0004g0353 a0002c0002t0004g0392 a0002c0002t0005g0211 a0002c0002t0018g0209 a0002c0002t0061g0208 a0002c0002t0062g0221 a0004c0004t0002g0172 a0004c0004t0002g0174 a0004c0004t0002g0181 a0004c0004t0012g0242	29	410	0.0707	19	c.317 others(36): Show c.317-2447_317-2446insATTTATTTTTTTTTTTTTT	BRI3BP	ENSG00000184992.13	transcript	ENST00000341446.9	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
BRI3BP_chr12_124988645_125036231	125022541	A A	ATTTATTT others(12): Show ATTTATTTTTATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02735.hp1 HG03017.hp2 others(3): Show HG00642.hp1 HG02735.hp1 HG03017.hp2 HG03491.hp1 HG03710.hp2 HG03834.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0022 a0002c0002t0004 a0002c0002t0022	a0002c0002t0004g0031 a0002c0002t0004g0138 a0002c0002t0004g0139 others(3): Show a0002c0002t0004g0031 a0002c0002t0004g0138 a0002c0002t0004g0139 a0002c0002t0004g0140 a0002c0002t0022g0235 a0002c0002t0022g0239	6	410	0.0146	19	c.317 others(36): Show c.317-2447_317-2446insATTTTTATTTTTTTTTTTT	BRI3BP	ENSG00000184992.13	transcript	ENST00000341446.9	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
BRI3BP_chr12_124988645_125036231	125022541	A A	ATTTATTT others(12): Show ATTTATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00621.hp2 HG00408.hp1 HG00621.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0004 a0004c0004t0002 a0002c0002t0004 a0004c0004t0002	a0002c0002t0004g0225 a0004c0004t0002g0180 a0002c0002t0004g0225 a0004c0004t0002g0180	2	410	0.0049	19	c.317 others(36): Show c.317-2447_317-2446insATTTTTTTTTTTTTTTTTT	BRI3BP	ENSG00000184992.13	transcript	ENST00000341446.9	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
BRI3_chr7_98276686_98296545	98280245	A A	AAAAAAAA others(12): Show AAAAAAAAAAATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	414	0.0024	19	c.-15 others(30): Show c.-1551_-1550insAAAAAAAAAATATATATAT	BRI3	ENSG00000164713.10	transcript	ENST00000297290.4	protein_coding		1440		chr7	TogoVar
BRI3_chr7_98276686_98296545	98280245	A A	AAAAAAAT others(12): Show AAAAAAATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	414	0.0024	19	c.-15 others(30): Show c.-1551_-1550insAAAAAATATATATATATAT	BRI3	ENSG00000164713.10	transcript	ENST00000297290.4	protein_coding		1440		chr7	TogoVar
BRI3_chr7_98276686_98296545	98280245	A A	AAATATAT others(12): Show AAATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02818.hp1 HG04228.hp2 others(2): Show HG02572.hp1 HG02818.hp1 HG04228.hp2 NA18947.hp2 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0017 a0001c0001t0001g0102 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0017 a0001c0001t0001g0102 a0001c0001t0001g0104	5	414	0.0121	19	c.-15 others(30): Show c.-1551_-1550insAATATATATATATATATAT	BRI3	ENSG00000164713.10	transcript	ENST00000297290.4	protein_coding		1440		chr7	TogoVar
BRI3_chr7_98276686_98296545	98280245	A A	AGATATAT others(12): Show AGATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG00642.hp1 HG00642.hp2 others(13): Show HG00609.hp1 HG00642.hp1 HG00642.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp1 HG02622.hp1 HG02809.hp2 HG03654.hp1 NA18942.hp1 NA18949.hp1 NA18974.hp1 NA18983.hp1 NA19007.hp1 NA19012.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0003 a0001c0001 a0001c0005 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0005t0003 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0005t0003 a0002c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0011 others(9): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0021 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0128 a0001c0001t0003g0013 a0001c0001t0003g0022 a0001c0001t0003g0029 a0001c0005t0003g0045 a0002c0003t0001g0001	16	414	0.0387	19	c.-15 others(30): Show c.-1551_-1550insGATATATATATATATATAT	BRI3	ENSG00000164713.10	transcript	ENST00000297290.4	protein_coding		1440		chr7	TogoVar
BRINP3_chr1_190092658_190482864	190277087	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	240	0.0042	19	c.427 others(36): Show c.427+4472_427+4473insTATATATATATATATATAT	BRINP3	ENSG00000162670.11	transcript	ENST00000367462.5	protein_coding	3/7			chr1	TogoVar
BRK1_chr3_10110675_10132190	10123732	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01099.hp2 HG02976.hp1 others(5): Show HG00408.hp2 HG01099.hp2 HG02976.hp1 NA18906.hp2 NA18940.hp2 NA18948.hp1 NA18953.hp1 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0015 a0001c0001t0001g0056 a0001c0001t0001g0057 others(3): Show a0001c0001t0001g0015 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0115 a0001c0001t0003g0042 a0001c0001t0003g0043	8	356	0.0225	19	c.119 others(36): Show c.119-1891_119-1873dupTTTTTTTTTTTTTTTTTTT	BRK1	ENSG00000254999.4	transcript	ENST00000530758.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
BRME1_chr19_13877348_13911117	13877367	T T	TGGAGCCG others(12): Show TGGAGCCGGTTGTCAGCGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0128 a0001c0001t0003g0128	1	322	0.0031	19	c.54 others(30): Show c.5434_*5435insGGCGCTGACAACCGGCTCC	BRME1	ENSG00000132016.12	transcript	ENST00000586783.6	protein_coding		4980		chr19	TogoVar
BRMS1L_chr14_35821338_35876963	35873207	A A	ATATATAT others(12): Show ATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	374	0.0027	19	c.27 others(30): Show c.2730_*2731insTATATATATATATATATAT	BRMS1L	ENSG00000100916.14	transcript	ENST00000216807.12	protein_coding		1245		chr14	TogoVar
BRMS1_chr11_66332339_66350104	66348980	C C	CCACCGCG others(12): Show CCACCGCGCCCGGCCGCACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0008 a0001c0004t0001g0008	1	424	0.0024	19	c.-40 others(30): Show c.-4017_-4016insTGTGCGGCCGGGCGCGGTG	BRMS1	ENSG00000174744.14	transcript	ENST00000359957.8	protein_coding		3877		chr11	TogoVar
BRWD1_chr21_39180482_39318632	39248641	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18980.hp1 NA19068.hp1 others(1): Show NA18747.hp1 NA18980.hp1 NA19068.hp1 NA19081.hp1	a0002 a0014 a0002 a0014	a0002c0002 a0014c0016 a0002c0002 a0014c0016	a0002c0002t0001 a0014c0016t0001 a0002c0002t0001 a0014c0016t0001	a0002c0002t0001g0216 a0002c0002t0001g0235 a0002c0002t0001g0241 others(1): Show a0002c0002t0001g0216 a0002c0002t0001g0235 a0002c0002t0001g0241 a0014c0016t0001g0202	4	338	0.0118	19	c.235 others(36): Show c.2350-828_2350-810dupTTTTTTTTTTTTTTTTTTT	BRWD1	ENSG00000185658.14	transcript	ENST00000342449.8	protein_coding	20/40			chr21	TogoVar
BRWD1_chr21_39180482_39318632	39312978	C C	CGGCGGGC others(12): Show CGGCGGGCGGGGGGGCCGGG	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0291 a0001c0001t0003g0291	1	338	0.0030	19	c.139 others(32): Show c.139-79_139-78insCCCGGCCCCCCCGCCCGCC	BRWD1	ENSG00000185658.14	transcript	ENST00000342449.8	protein_coding	3/40			chr21	TogoVar
BSCL2_chr11_62685275_62712424	62696278	T T	TGTGTGTG others(12): Show TGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	330	0.0030	19	c.487 others(36): Show c.487-1568_487-1567insCACACACACACACACACAC	BSCL2	ENSG00000168000.16	transcript	ENST00000360796.10	protein_coding	3/10			chr11	TogoVar
BSG_chr19_567596_588493	570749	G G	GGGGTGAG others(12): Show GGGGTGAGTGGGGGGGCGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 HG02300.hp2 HG01192.hp2 HG02300.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0008 a0001c0002t0001 a0001c0003t0008	a0001c0002t0001g0087 a0001c0003t0008g0003 a0001c0002t0001g0087 a0001c0003t0008g0003	2	306	0.0065	19	c.-18 others(30): Show c.-1886_-1885insGGGTGAGTGGGGGGGCGGA	BSG	ENSG00000172270.22	transcript	ENST00000333511.9	protein_coding		1846		chr19	TogoVar
BSG_chr19_567596_588493	570772	G G	GGGGTGAG others(12): Show GGGGTGAGTGGGGGGGCGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(107): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00735.hp2 HG01070.hp2 HG01074.hp1 HG01106.hp2 HG01109.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01517.hp2 HG01884.hp2 HG01928.hp2 HG01934.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02074.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp2 HG02273.hp1 HG02293.hp1 HG02572.hp2 HG02602.hp2 HG02630.hp2 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02896.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG03041.hp1 HG03098.hp2 HG03239.hp2 HG03453.hp1 HG03579.hp1 HG03579.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03927.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18747.hp1 NA18943.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp2 NA18964.hp1 NA18970.hp1 NA18970.hp2 NA18980.hp2 NA18982.hp2 NA18983.hp2 NA18990.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp2 NA19004.hp2 NA19011.hp1 NA19074.hp1 NA19080.hp1 NA19082.hp2 NA19085.hp1 NA19088.hp1 NA19090.hp1 NA19091.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0003c0011 a0004c0009	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(13): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0011 a0001c0001t0015 a0001c0001t0020 a0001c0002t0001 a0001c0003t0001 a0001c0003t0004 a0001c0003t0006 a0001c0003t0008 a0001c0003t0009 a0001c0003t0010 a0001c0006t0002 a0003c0011t0002 a0004c0009t0022	a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0007 others(58): Show a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0011 a0001c0001t0002g0015 a0001c0001t0002g0018 a0001c0001t0002g0030 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0045 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0132 a0001c0001t0002g0138 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0158 a0001c0001t0002g0164 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0003g0014 a0001c0001t0003g0095 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0005g0079 a0001c0001t0011g0111 a0001c0001t0011g0151 a0001c0001t0015g0004 a0001c0001t0020g0023 a0001c0002t0001g0001 a0001c0002t0001g0016 a0001c0002t0001g0102 a0001c0003t0001g0066 a0001c0003t0004g0003 a0001c0003t0004g0008 a0001c0003t0004g0017 a0001c0003t0004g0019 a0001c0003t0004g0020 a0001c0003t0004g0033 a0001c0003t0004g0039 a0001c0003t0004g0054 a0001c0003t0004g0057 a0001c0003t0004g0059 a0001c0003t0004g0061 a0001c0003t0004g0063 a0001c0003t0004g0067 a0001c0003t0004g0071 a0001c0003t0004g0159 a0001c0003t0004g0160 a0001c0003t0006g0003 a0001c0003t0006g0062 a0001c0003t0008g0003 a0001c0003t0009g0037 a0001c0003t0010g0053 a0001c0006t0002g0103 a0003c0011t0002g0004 a0004c0009t0022g0091	110	306	0.3595	19	c.-18 others(30): Show c.-1863_-1862insGGGTGAGTGGGGGGGCGGA	BSG	ENSG00000172270.22	transcript	ENST00000333511.9	protein_coding		1823		chr19	TogoVar
BSG_chr19_567596_588493	570775	G G	GTGAGTGG others(12): Show GTGAGTGGGGGGGCGGAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0038 a0001c0003t0006g0038	1	306	0.0033	19	c.-18 others(30): Show c.-1860_-1859insTGAGTGGGGGGGCGGAGGA	BSG	ENSG00000172270.22	transcript	ENST00000333511.9	protein_coding		1820		chr19	TogoVar
BSG_chr19_567596_588493	570795	G G	GGGGTGAG others(12): Show GGGGTGAGTGGGGGGGCGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0058 a0001c0003t0001g0058	1	306	0.0033	19	c.-18 others(30): Show c.-1840_-1839insGGGTGAGTGGGGGGGCGGA	BSG	ENSG00000172270.22	transcript	ENST00000333511.9	protein_coding		1800		chr19	TogoVar
BSND_chr1_54993933_55022172	54996837	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG02109.hp1 HG02258.hp1 others(3): Show HG00438.hp2 HG02109.hp1 HG02258.hp1 HG02896.hp2 HG03834.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0038 a0001c0001t0057 others(2): Show a0001c0001t0018 a0001c0001t0038 a0001c0001t0057 a0001c0001t0063 a0001c0001t0071	a0001c0001t0018g0004 a0001c0001t0038g0014 a0001c0001t0057g0037 others(2): Show a0001c0001t0018g0004 a0001c0001t0038g0014 a0001c0001t0057g0037 a0001c0001t0063g0043 a0001c0001t0071g0027	6	448	0.0134	19	c.-23 others(30): Show c.-2350_-2349insTTTTTTTTTTTTTTTTTTT	BSND	ENSG00000162399.9	transcript	ENST00000651561.1	protein_coding		2095		chr1	TogoVar
BSN_chr3_49549477_49676549	49605518	A A	AATATATA others(12): Show AATATATATTATATATATTT	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0140 a0001c0001t0002g0140	1	186	0.0054	19	c.225 others(38): Show c.225-19457_225-19456insATATATATTATATATATTT	BSN	ENSG00000164061.5	transcript	ENST00000296452.5	protein_coding	1/11			chr3	TogoVar
BSN_chr3_49549477_49676549	49606060	A A	AATAATAA others(12): Show AATAATAAATATATATAATT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0125 a0001c0001t0011g0125	1	186	0.0054	19	c.225 others(38): Show c.225-18912_225-18911insATAAATATATATAATTATA	BSN	ENSG00000164061.5	transcript	ENST00000296452.5	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
BSN_chr3_49549477_49676549	49673087	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp1 HG01257.hp2 HG01928.hp2 others(3): Show HG01192.hp1 HG01257.hp2 HG01928.hp2 HG02300.hp2 HG03654.hp1 homoSapiens_chm13v2.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0014 a0001c0001 a0009c0014	a0001c0001t0003 a0001c0001t0009 a0009c0014t0009 a0001c0001t0003 a0001c0001t0009 a0009c0014t0009	a0001c0001t0003g0119 a0001c0001t0003g0130 a0001c0001t0003g0137 others(3): Show a0001c0001t0003g0119 a0001c0001t0003g0130 a0001c0001t0003g0137 a0001c0001t0009g0094 a0001c0001t0009g0149 a0009c0014t0009g0099	6	186	0.0323	19	c.56 others(30): Show c.5602_*5603insTTTTTTTTTTTTTTTTTTT	BSN	ENSG00000164061.5	transcript	ENST00000296452.5	protein_coding		1539		chr3	TogoVar
BST1_chr4_15698065_15737787	15736842	C C	CTGAGGAC others(12): Show CTGAGGACAGCATTTTTATG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0069 a0003c0003t0002g0069	1	442	0.0023	19	c.49 others(30): Show c.4997_*4998insTGAGGACAGCATTTTTATG	BST1	ENSG00000109743.11	transcript	ENST00000265016.9	protein_coding		4056		chr4	TogoVar
BST2_chr19_17397939_17410630	17401097	C C	CGAGGAGG others(12): Show CGAGGAGGGGGGGGGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0015 a0002c0006t0015	a0002c0006t0015g0031 a0002c0006t0015g0031	1	412	0.0024	19	c.22 others(30): Show c.2244_*2245insTCCCCCCCCCCCCCTCCTC	BST2	ENSG00000130303.14	transcript	ENST00000252593.7	protein_coding		1841		chr19	TogoVar
BST2_chr19_17397939_17410630	17406017	A A	AGGGCCTG others(12): Show AGGGCCTGGGTCTGGGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00558.hp1 HG00735.hp1 others(118): Show HG00438.hp1 HG00558.hp1 HG00735.hp1 HG00738.hp1 HG00741.hp2 HG01070.hp1 HG01109.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01258.hp2 HG01261.hp1 HG01433.hp2 HG01516.hp2 HG01884.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp2 HG01981.hp2 HG02004.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02083.hp2 HG02135.hp2 HG02145.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp2 HG02293.hp1 HG02293.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02602.hp1 HG02698.hp1 HG02717.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02897.hp1 HG03098.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03486.hp1 HG03516.hp1 HG03540.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18944.hp2 NA18948.hp2 NA18951.hp1 NA18952.hp2 NA18954.hp2 NA18955.hp1 NA18956.hp2 NA18960.hp2 NA18962.hp1 NA18963.hp1 NA18964.hp1 NA18968.hp2 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18982.hp1 NA18986.hp2 NA18993.hp2 NA18994.hp2 NA18997.hp1 NA18998.hp1 NA18999.hp1 NA19003.hp2 NA19004.hp2 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19057.hp2 NA19063.hp2 NA19070.hp2 NA19077.hp1 NA19080.hp2 NA19081.hp2 NA19083.hp1 NA19084.hp2 NA19086.hp1 NA19088.hp1 NA19091.hp1 NA19240.hp1 NA20129.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0003 a0001c0001 a0004c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0009 a0001c0001t0014 a0004c0003t0002	a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0002g0004 others(8): Show a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0021 a0001c0001t0002g0025 a0001c0001t0002g0027 a0001c0001t0007g0012 a0001c0001t0009g0017 a0001c0001t0014g0026 a0004c0003t0002g0022	121	412	0.2937	19	c.-46 others(28): Show c.-461_-443dupCGCCCCCAGACCCAGGCCC	BST2	ENSG00000130303.14	transcript	ENST00000252593.7	protein_coding		388		chr19	TogoVar

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